Canonical Allele Identifier: CA399928040

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848840A>C , CM000679.2:g.56848840A>C GRCh38
NC_000017.10:g.54926201A>C , CM000679.1:g.54926201A>C GRCh37
NC_000017.9:g.52281200A>C NCBI36
NG_033888.1:g.19742A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.1033A>C (DGKE) MANE Select ENSP00000284061.3:p.Ile345Leu
ENST00000648772.1:c.*313+3103T>G (TRIM25) ENSP00000498158.1:n.*313+3103T>G
ENST00000284061.7:c.1033A>C (DGKE) ENSP00000284061.3:p.Ile345Leu
ENST00000572944.1:c.863A>C (DGKE)
NM_003647.2:c.1033A>C (DGKE) NP_003638.1:p.Ile345Leu
XM_011525394.1:c.1087A>C (DGKE) XP_011523696.1:p.Ile363Leu
XM_011525395.1:c.1087A>C (DGKE) XP_011523697.1:p.Ile363Leu
XM_011525396.1:c.1087A>C (DGKE) XP_011523698.1:p.Ile363Leu
XM_011525397.1:c.1087A>C (DGKE) XP_011523699.1:p.Ile363Leu
XM_011525398.1:c.577A>C (DGKE) XP_011523700.1:p.Ile193Leu
XR_934581.1:n.1186A>C (DGKE)
XM_011525394.3:c.1087A>C (DGKE) XP_011523696.1:p.Ile363Leu
XM_011525395.2:c.1087A>C (DGKE) XP_011523697.1:p.Ile363Leu
XM_011525396.2:c.1087A>C (DGKE) XP_011523698.1:p.Ile363Leu
XM_017025243.2:c.1405A>C (DGKE) XP_016880732.1:p.Ile469Leu
XM_017025244.2:c.1087A>C (DGKE) XP_016880733.1:p.Ile363Leu
XR_001752670.2:n.1591A>C (DGKE)
XR_001752671.1:n.1198A>C (DGKE)
XR_001752672.1:n.1199A>C (DGKE)
XR_002958079.1:n.1197A>C (DGKE)
NM_003647.3:c.1033A>C (DGKE) MANE Select NP_003638.1:p.Ile345Leu